Aliases for ZBTB42 Gene
Aliases for ZBTB42 Gene
External Ids for ZBTB42 Gene
- HGNC: 32550
- Entrez Gene: 100128927
- Ensembl: ENSG00000179627
- OMIM: 613915
- UniProtKB: B2RXF5
Previous GeneCards Identifiers for ZBTB42 Gene
- GC00U921814
- GC14U900765
- GC14P104339
- GC14P105266
- GC14P085448
Summaries for ZBTB42 Gene
-
The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
GeneCards Summary for ZBTB42 Gene
ZBTB42 (Zinc Finger And BTB Domain Containing 42) is a Protein Coding gene. Diseases associated with ZBTB42 include Lethal Congenital Contracture Syndrome 6 and Lethal Congenital Contracture Syndrome. An important paralog of this gene is ZBTB18.
UniProtKB/Swiss-Prot for ZBTB42 Gene
-
Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.
Additional gene information for ZBTB42 Gene
- Monarch Initiative
- Search for ZBTB42 at DataMed
- Search for ZBTB42 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB42 Gene
Genomics for ZBTB42 Gene
GeneHancer (GH) Regulatory Elements for ZBTB42 Gene
Promoters and enhancers for ZBTB42 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH14I104798 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 555.1 | -0.3 | -305 | 3 | PKNOX1 FOXA2 MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF143 SP5 MXD4 | ZBTB42 GC14P104804 PIR45835 MTA1 AKT1 ENSG00000257270 CDCA4 SIVA1 | |
| GH14I104801 | Enhancer | 0.7 | ENCODE dbSUPER | 550.8 | +1.3 | 1283 | 0.2 | ZFP69B RXRA NR2F6 ZFX EZH2 | GC14P104804 PIR45835 PIR61461 ZBTB42 | |
| GH14I104793 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE dbSUPER | 5.6 | -4.8 | -4780 | 5.2 | ATF1 ZFP64 ARID4B SIN3A TCF12 GLIS2 SP3 REST GMEB1 ZSCAN16 | AKT1 ZBTB42 INF2 | |
| GH14I104786 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 4.7 | -13.3 | -13262 | 2.4 | KLF1 ZBTB8A ZIC2 GABPA HIC1 ZFHX2 GLIS2 ZNF692 POLR2A GLIS1 | SIVA1 ZBTB42 AKT1 ENSG00000258430 | |
| GH14I104784 | Enhancer | 0.6 | dbSUPER | 4.7 | -15.8 | -15819 | 1.2 | NFIB ZIC2 NFIC LCORL ZNF544 ZNF341 GLIS1 ZBTB20 | SIVA1 PPP1R13B CLBA1 ZBTB42 AKT1 ENSG00000258430 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ZBTB42 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ZBTB42 gene promoter:
Regulatory Element Products
Genomic Locations for ZBTB42 Gene
Genomic Locations for ZBTB42 Gene
- chr14:104,800,596-104,804,712
- (GRCh38/hg38)
- Size:
- 4,117 bases
- Orientation:
- Plus strand
- chr14:105,266,933-105,271,049
- (GRCh37/hg19)
Genomic View for ZBTB42 Gene
Genes around ZBTB42 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q32.33 by Ensembl
- 14q32.33 by Entrez Gene
- 14q32.33 by HGNC
ZBTB42 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ZBTB42 Gene
Proteins for ZBTB42 Gene
-
Protein details for ZBTB42 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- B2RXF5-ZBT42_HUMAN
- Recommended name:
- Zinc finger and BTB domain-containing protein 42
- Protein Accession:
- B2RXF5
- B7ZW21
Protein attributes for ZBTB42 Gene
- Size:
- 422 amino acids
- Molecular mass:
- 46491 Da
- Quaternary structure:
- No Data Available
Protein Expression for ZBTB42 Gene
Post-translational modifications for ZBTB42 Gene
No Post-translational modifications
Other Protein References for ZBTB42 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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Assay Products
No data available for DME Specific Peptides for ZBTB42 Gene
Domains & Families for ZBTB42 Gene
Gene Families for ZBTB42 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for ZBTB42 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZBTB42 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
B2RXF5UniProtKB/Swiss-Prot:
ZBT42_HUMAN :- Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
Function for ZBTB42 Gene
Molecular function for ZBTB42 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.
Phenotypes From GWAS Catalog for ZBTB42 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZBTB42 Gene
- GenomeRNAi human phenotypes for ZBTB42:
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miRNA for ZBTB42 Gene
- miRTarBase miRNAs that target ZBTB42
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB42 Gene
Localization for ZBTB42 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZBTB42 Gene
- Cytoplasm. Nucleus. Nucleus, nucleoplasm. Note=In skeletal myofibers, highly enriched in subsynaptic nuclei at the neuromuscular junctions. {ECO:0000250 UniProtKB:Q811H0}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 2 |
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 21193930 |
| GO:0005654 | nucleoplasm | ISS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for ZBTB42 Gene
No Data Available
Interacting Proteins for ZBTB42 Gene
Selected Interacting proteins:
ENSP00000409107
B2RXF5-ZBT42_HUMAN
for ZBTB42 Gene via
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007517 | muscle organ development | IMP | 25055871 |
No data available for Pathways by source and SIGNOR curated interactions for ZBTB42 Gene
Transcripts for ZBTB42 Gene
mRNA/cDNA for ZBTB42 Gene
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZBTB42 Gene
- Zinc finger and BTB domain containing 42:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ZBTB42
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-
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ZBTB42
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ZBTB42 Gene
mRNA differential expression in normal tissues according to GTEx for ZBTB42 Gene
This gene is overexpressed in Pancreas (x4.5).
This gene is overexpressed in Pancreas (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB42 Gene
NURSA nuclear receptor signaling pathways regulating expression of ZBTB42 Gene:
ZBTB42SOURCE GeneReport for Unigene cluster for ZBTB42 Gene:
Hs.170853mRNA Expression by UniProt/SwissProt for ZBTB42 Gene:
B2RXF5-ZBT42_HUMAN
Tissue specificity:
Expressed in skeletal muscle (at protein level).
Evidence on tissue expression from TISSUES for ZBTB42 Gene
- Nervous system(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB42 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeleton
Regions:
Head and neck:
- brain
- head
- skull
Primer Products
-
OriGene qPCR primer pairs for ZBTB42
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ZBTB42 Gene
Orthologs for ZBTB42 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZBTB42 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ZBTB42 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ZBTB42 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Zbtb42 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Zbtb42 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ZBTB42 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZBTB42 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ZBTB42 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | ZBTB42 34 |
|
OneToOne |
- Species where no ortholog for ZBTB42 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for ZBTB42 Gene
Paralogs for ZBTB42 Gene
(20) SIMAP similar genes for ZBTB42 Gene using alignment to 1 proteins:
Variants for ZBTB42 Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs730882163 | pathogenic, Lethal congenital contracture syndrome 6, Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248] | 104,802,387(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1000065107 | -- | 104,802,696(+) | C/A | 3_prime_UTR_variant | |
| rs1000442977 | -- | 104,801,677(+) | C/A | coding_sequence_variant, synonymous_variant | |
| rs1000699304 | -- | 104,804,368(+) | C/T | 3_prime_UTR_variant | |
| rs1000731457 | -- | 104,804,598(+) | G/A | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv952271 | CNV | deletion | 24416366 |
| nsv566073 | CNV | loss | 21841781 |
| nsv566069 | CNV | loss | 21841781 |
| nsv566057 | CNV | gain+loss | 21841781 |
| nsv517038 | CNV | loss | 19592680 |
| nsv511544 | CNV | loss | 21212237 |
| nsv470677 | CNV | loss | 18288195 |
| nsv1143618 | CNV | deletion | 24896259 |
| nsv1069824 | CNV | deletion | 25765185 |
| nsv1054574 | CNV | loss | 25217958 |
| esv3635627 | CNV | gain | 21293372 |
| dgv3958n54 | CNV | loss | 21841781 |
| dgv3957n54 | CNV | loss | 21841781 |
| dgv3953n54 | CNV | gain | 21841781 |
Gene Damage Index Score:
2.64;
45.49% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ZBTB42 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB42 Gene
Disorders for ZBTB42 Gene
(4) MalaCards diseases for ZBTB42 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lethal congenital contracture syndrome 6 |
|
|
| lethal congenital contracture syndrome |
|
|
| polyhydramnios |
|
|
| distal arthrogryposis |
|
|
Search ZBTB42 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ZBT42_HUMAN- Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. {ECO:0000269 PubMed:25055871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ZBTB42
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ZBTB42 Gene
Publications for ZBTB42 Gene
- ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (PMID: 25055871) Patel N … Alkuraya FS (Human molecular genetics 2014) 3 4 58
- Characterization of the ZBTB42 gene in humans and mice. (PMID: 21193930) Devaney SA … Hoffman EP (Human genetics 2011) 3 4 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 23 available ZBTB42 Antibodies ranked by validation data
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Sources for ZBTB42 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
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